TY - JOUR
T1 - Revertant mosaicism in skin
T2 - Natural gene therapy
AU - Lai-Cheong, Joey E.
AU - McGrath, John A.
AU - Uitto, Jouni
PY - 2011/3
Y1 - 2011/3
N2 - Revertant mosaicism is a naturally occurring phenomenon involving spontaneous correction of a pathogenic mutation in a somatic cell. Recent studies suggest that it is not a rare event and that it could be clinically relevant to phenotypic expression and patient treatment. Indeed, revertant cell therapy represents a potential 'natural gene therapy' because in vivo reversion obviates the need for further genetic correction. Revertant mosaicism has been observed in several inherited conditions, including epidermolysis bullosa, a heterogeneous group of blistering skin disorders. These diseases provide a useful model for studying revertant mosaicism because of the visual and accessible nature of skin. This overview highlights the latest developments in revertant mosaicism and the translational implications germane to heritable skin disorders.
AB - Revertant mosaicism is a naturally occurring phenomenon involving spontaneous correction of a pathogenic mutation in a somatic cell. Recent studies suggest that it is not a rare event and that it could be clinically relevant to phenotypic expression and patient treatment. Indeed, revertant cell therapy represents a potential 'natural gene therapy' because in vivo reversion obviates the need for further genetic correction. Revertant mosaicism has been observed in several inherited conditions, including epidermolysis bullosa, a heterogeneous group of blistering skin disorders. These diseases provide a useful model for studying revertant mosaicism because of the visual and accessible nature of skin. This overview highlights the latest developments in revertant mosaicism and the translational implications germane to heritable skin disorders.
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U2 - 10.1016/j.molmed.2010.11.003
DO - 10.1016/j.molmed.2010.11.003
M3 - Review article
C2 - 21195026
AN - SCOPUS:79952441928
SN - 1471-4914
VL - 17
SP - 140
EP - 148
JO - Trends in Molecular Medicine
JF - Trends in Molecular Medicine
IS - 3
ER -